A disease that results from a change to an individual's DNA is classified as a genetic disorder. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome. An instance of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. It is common for affected individuals to show irregularities in their eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009). Marfan syndrome is an autosomal dominant disorder resulting from mutations in the gene fibrillin-1 (FBN1) found on chromosome 15 (McKusick V, O'Neill M, 2013). At least 140 different mutations of this gene have been recorded since 2008 (Frey R, Lutwick L, 2009). The FBN1 gene regulates the manufacturing of the fibrillin-1 protein that assists in constructing fibrous filaments which are present in portions of the fibers in connective tissue (Frey R, Lutwick L, 2009). Those filaments manage the discharge of growth factors or protein molecules which prompt the reproduction and growth of cells (Frey R, Lutwick L, 2009). In healthy individuals, the filaments discharge growth factors at the right moment but those who have Marfan syndrome are faced with the dilemma of growth factors being discharged too soon. The early release of growth factors results in fragile connective tissue and the uncommonly lengthy limbs of those with the disorder. This genetic disorder is not specific to a certain age, ethnic group, or gender; theref... ... middle of paper ... ... p. 941-947. Available from: Gale Virtual Reference Library; http://ezproxy.pc.maricopa.edu:2071/ps/retrieve.do? sgHitCountType=None&sort=RELEVANCE&inPS=true&prodId=GVRL&userGrou pName=mcc_phoe&tabID=T003&searchId=R2 &resultListType=RESULT_LIST&contentSegment=&searchType=AdvancedSearchF orm¤tPosition=1&contentSet=GALE%7CCX2468400295 &&docId=GALE|CX2468400295&docType=GALE McKusick V, O'Neill M. 2013. Fibrillin 1. OMIM, Online Mendelian inheritance in man [Internet]. Baltimore (MD): Johns Hopkins University; [cited 2013 Nov 7]. Available from: http://www.omim.org/entry/134797?search=marfan% 20syndrome&highlight=marfan%20syndrome%20syndromic#editHistory-shutter National Institutes of Health [Internet]. 2010. Bethesda (MD): National Heart, Lung, and Blood Institute; [cited 2013 Nov 7] Available from: http://www.nhlbi.nih.gov/health/health- topics/topics/mar/
Marfan syndrome is a Single Gene Mutation and the gene that is mutated is FBN 1 (Fibrillin 1).The gene is located on chromosome 15 and the disorder’s mode of inheritance is autosomal dominant. This means that females and males are equally affected and that only one gene, “abnormal” gene is needed from either parent to be inherited in. Fibrillin 1 basically affects the elasticity of connective tissue. The gene makes many fibrillin proteins and these fibrillin proteins then join together to form a long, and string like object called microfibrils.
Marfans occurs evenly in men and women and can be inherited from just one parent. Marfan syndrome is also referred to as...
Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan syndrome is common, and it is imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition.
Each form of muscular dystrophy is caused by a defect in a specific gene. In 1986, scientists discovered exactly which piece of genetic material is missing in Duchenne muscular dystrophy patients. They named it for Guillaume Benjamin Amand Duchenne(1806-1875), a French neurologist who was one of the first doctors to discover and study the disease. When functioning properly, the Duchenne gene carries instructions for assembling a muscle protein known as dystrophin. At about 2,500,000 nucleotides, dystrophin is one of the largest genes known. Dystrophin is largely responsible for reinforcing and stabilizing the sarcolemma. Dystrophin associates with the muscle fiber sarcolemma by interacting with the actin microfilaments and with a transmembrane protein complex linked to the extracellular matrix. This latter dystrophin-associated glycoprotein complex (DAGC) includes the extracellular proteoglycan, [Alpha]-dystroglycan, which binds to merosin in muscle fiber basal laminae, as well as a number of other integral and cytoplasmic membrane proteins: [Alpha]-dystroglycan; [Alpha]-, [Beta]- and [Gamma]- sarcoglycans (see Figure 1). The DAGC provides a physical link and, potentially, a signaling pathway between the extracellular matrix and the internal scaffolding of the muscle cells. Mutations in the Duchenne gene result in dystrophin deficiency, which constitutes the pathogenic basis of DMD. Dystrophin is either absent or severely deficient in a person with DMD. When dystrophin is lost through gene mutation, the muscle falls apart under the tension generated when it contracts. Without dystrophin, the muscle fibers also lose their ability to regenerate and are eventually replaced with adipose tissue and fibrous connective tissue (see Fig. 2 and Fig. 3).
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome.
This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two are just as long as the original term for the disorder. They are known as Cardio-facial-cutaneous syndrome and Facio-cardio-cutaneous syndrome. It was first construed in the year of 1986 by J.F. Reynolds and associates at two places; the Shodair Children’s Hospital in Helena, Montana and the University of Utah. Its explanation was concluded from the examination of eight unrelated patients who all shared many of the same characteristics. They all had psychological disabilities and analogous aberrations in their appearance of their face, hair, skin, nails, and heart.
Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder is caused by a series of repeats of a trinucleotide region that is expanded beyond the normal levels (Musova et al., 2009). The trinucleotide region is a series of repeats of CTG in the untranslated region of the dystrophia myotonica protein kinase gene. The severity of the disorder is associated with the number of repeats the individual has within the gene. Normal individuals tend to have between 5 and 37 repeats while an individual with a very mild myotonic dystrophy may have 50 to 150 repeats, and if the disorder is discovered at the time of birth the individual will have over 2,000 repeats of the trinucleotide region (Musova et al., 2009). Myotonic dystrophy, type 1, affects multiple organ systems of the body and is relatively slow to progress. Myotonic dystrophy, type 1, is categorized by alterations of the beating pattern of the heart, faulty dystrophin proteins, clouding of the lens of the eye, decreased functionality of the gonads, balding, and myotonia (Musova et al., 2009). Myotonia is described as the slow relaxation of any muscle type, which will cause the individual to use extended effort to simply relax the muscles after they have been contracted. Muscular dystrophy causes an individual to experience muscular deg...
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this genetic mutation manifests thought out the body, the presenting symptoms, the risk factors, treatment, and education needs of the patient.
Birth Defect: Achondroplasia Sarah Smyth A genetic disease is a mutation caused by the absence of a gene or by products of a defective gene. ("Genetic Disease") ("What Are Genetic Disorders?") I chose to research Achondroplasia, because I thought that it was interesting. I’ve never really heard of this disease before, and I also wanted to do something different than the other kids.
Sarnat HB Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF,eds.Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap601
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
1. According to the author of the article "All in the Genes?", there is no
This is a genetic condition that is characterized by the dramatic, rapid appearance of aging beginning in childhood. Children with this condition more often have prominent eyes, thin lips, a thin nose, and protruding ears. Alopecia is also common and so is aged looking skin and joint abnormalities. Hardening of the arteries (arteriosclerosis) is also common. This increases the chances of having a heart attack or a stroke. This condition is rare and is reported to occur in 1 in 4 million newborns worldwide. This condition is diagnosed by genetic testing along with other physical examinations. This condition is caused by a mutation in the LMNA gene. The LMNA provides instructions for making proteins called lamin. This condition results in the production of an abnormal version of the lamin A protein. Because of this mutated protein, the nuclear envelope is unstable and the nucleus becomes progressively damaged. The average life expectancy for someone with this disease is approximately 13 years old. There is not a known cure for this disease, but medications and therapy can help alleviate